"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYBPC3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 42744	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3 (R1271*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +7 more	GPathogenic/Likely pathogenic
Select item 407316	NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)	MYBPC3 (R1267C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 42743	NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)	MYBPC3 (C1266Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 42742	NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)	MYBPC3 (C1264Y)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +6 more	GUncertain significance
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	not provided +6 more	GPathogenic
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 42731	NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)	MYBPC3 (R1226C)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 162506	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 407314	NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)	MYBPC3 (C1202S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 42723	NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)	MYBPC3 (A1194T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 42722	NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)	MYBPC3 (R1190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 810763	NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)	MYBPC3 (A1151V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 42713	NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)	MYBPC3 (V1139I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GUncertain significance
Select item 161307	NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)	MYBPC3 (R1138C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 454326	NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)	MYBPC3 (R1120C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 1172441	NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)	MYBPC3 (T1114A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 42706	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 520450	NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)	MYBPC3 (T1109N)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 42704	NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)	MYBPC3 (K1108T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 8616	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3 (E1096*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic/Likely pathogenic
Select item 520379	NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)	MYBPC3 (A1077S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 449612	NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)	MYBPC3 (T1075S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Heart block +12 more	GPathogenic/Likely pathogenic
Select item 42691	NM_000256.3(MYBPC3):c.3190+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic
Select item 177837	NM_000256.3(MYBPC3):c.3190+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 520333	NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)	MYBPC3 (T1057M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 188576	NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)	MYBPC3 (R1048H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 574286	NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)	MYBPC3 (R1037C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 42688	NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)	MYBPC3 (R1036C)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 42686	NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)	MYBPC3 (R1033Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 42680	NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)	MYBPC3 (R1022C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36610	NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	MYBPC3 (Q998E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 164054	NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)	MYBPC3 (R980H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 518241	NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)	MYBPC3 (P976R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 42669	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3 (Q969*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42663	NC_000011.10:g.47335082_47335083del	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 1330863	NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)	MYBPC3 (A950E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +2 more	GUncertain significance
Select item 42659	NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)	MYBPC3 (R943Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GUncertain significance
Select item 1468783	NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)	MYBPC3 (R939P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 181130	NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)	MYBPC3 (T936M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1383870	NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)	MYBPC3 (L930V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 42657	NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 454320	NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)	MYBPC3 (G922E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 918284	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	MYBPC3 (G903D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 407320	NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)	MYBPC3 (R895C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 812048	NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)	MYBPC3 (E894D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 177884	NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)	MYBPC3 (R891Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 177949	NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)	MYBPC3 (R891W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 42649	NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)	MYBPC3 (T885M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 42648	NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 64615	NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)	MYBPC3 (P873L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 30143	NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)	MYBPC3 (P873H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 518630	NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)	MYBPC3 (G868S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +5 more	GUncertain significance
Select item 217837	NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)	MYBPC3 (A851V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 1677564	NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val)	MYBPC3 (A848V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 180975	NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)	MYBPC3 (A848G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 180972	NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys)	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +3 more	GUncertain significance
Select item 179456	NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)	MYBPC3 (E838Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 181080	NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)	MYBPC3 (I837fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 42627	NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)	MYBPC3 (A833V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GBenign/Likely benign
Select item 8617	NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	MYBPC3 (R820Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GPathogenic/Likely pathogenic
Select item 164078	NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)	MYBPC3 (R817W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 919921	NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)	MYBPC3 (G800E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 42619	NC_000011.10:g.47337730dup	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 36605	NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	MYBPC3 (W792R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic/Likely pathogenic
Select item 927050	NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)	MYBPC3 (A776V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 42618	NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)	MYBPC3 (A774T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 42613	NM_000256.3(MYBPC3):c.2309-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 161309	NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)	MYBPC3 (V757M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 164086	NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)	MYBPC3 (T750M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 924466	NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)	MYBPC3 (R733L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 181126	NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)	MYBPC3 (R733H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 42607	NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)	MYBPC3 (R733C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 575705	NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	MYBPC3 (R726C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1053754	NM_000256.3(MYBPC3):c.2149-80G>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 632160	NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)	MYBPC3 (A693S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 454309	NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)	MYBPC3 (T688M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 180962	NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)	MYBPC3 (T688K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 164091	NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)	MYBPC3	Indel	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 42590	NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)	MYBPC3 (I659T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 42588	NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)	MYBPC3 (R654H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 42587	NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)	MYBPC3 (R654C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 164093	NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic
Select item 454306	NC_000011.10:g.47341135C>T	MYBPC3	Single nucleotide variant	Cardiovascular phenotype +4 more	GUncertain significance
Select item 668670	NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 42575	NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	MYBPC3 (D610N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 837763	NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)	MYBPC3 (I603M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 179549	NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)	MYBPC3 (R597W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 180947	NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)	MYBPC3 (R574W)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 164102	NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)	MYBPC3 (A558T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 42552	NM_000256.3(MYBPC3):c.1624+13G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign

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